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COL2A1 and cleft lip and palate are reported together in 1 article.
Gene
COL2A1
- HGNC
- HGNC:2200
7articles
7mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Cleft lip and palate
80articles
80mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1.
PMID 32896647 | DOI 10.1016/j.ejmg.2020.104059 · European journal of medical genetics · 2020 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | COL2A1 | “Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1.” | 0.98 | hgnc_dict_v1 |
| phenotype | cleft lip and palate | “Here we report on two siblings, originating from a consanguineous family, who presented with disproportionate short stature, ocular abnormalities, cleft palate and hearing impairment.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Population | “Here we report on two siblings, originating from a consanguineous family, who presented with disproportionate short stature, ocular abnormalities, cleft palate and hearing impairment.” | 0.80 | saudi_context_rules_v1 |